Canonical Allele Identifier: CA374885245
Gene: NR5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.127262405G>T (hg19) chr9:g.124500126G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124500126G>T , CM000671.2:g.124500126G>T GRCh38
NC_000009.11:g.127262405G>T , CM000671.1:g.127262405G>T GRCh37
NC_000009.10:g.126302226G>T NCBI36
NG_008176.1:g.12295C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373588.9:c.834C>A MANE Select ENSP00000362690.4:p.Asp278Glu
ENST00000373587.3:c.186C>A ENSP00000362689.3:p.Asp62Glu
ENST00000373588.8:c.834C>A ENSP00000362690.4:p.Asp278Glu
ENST00000620110.4:c.834C>A ENSP00000483309.1:p.Asp278Glu
NM_004959.4:c.834C>A NP_004950.2:p.Asp278Glu
XM_005251871.2:c.834C>A XP_005251928.1:p.Asp278Glu
XM_005251872.3:c.573C>A XP_005251929.1:p.Asp191Glu
XM_011518455.1:c.834C>A XP_011516757.1:p.Asp278Glu
XM_011518456.1:c.834C>A XP_011516758.1:p.Asp278Glu
NM_004959.5:c.834C>A MANE Select NP_004950.2:p.Asp278Glu
Search 100 bp 5'
Search 100 bp 3'